Case
SR451
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
Hidden
SR451
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
Visit at age: 42 years
Fundus Photography - Right - Hand Motion 1' sc
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Fundus Montage - Right - Hand Motion 1' sc
Exemplar
Fundus Montage - Left - Light Perception
Exemplar
Goldmann Visual Field - Right - Hand Motion 1' sc
Exemplar
Goldmann Visual Field - Left - Light Perception
Exemplar
Optical Coherence Tomography - Right - Hand Motion 1' sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 1' sc
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
Bardet Biedl Syndrome |
BBS2 |
Asp174Glu GAT>GAA |
Arg275Stop CGA>TGA |
AR |
Allele 1:
Asp174Glu GAT>GAA
Allele 2:
Arg275Stop CGA>TGA